Syndrome of the acromegaloid face with hypertrichosis Q87.0

Autosomal dominant or autosomal recessive inherited dysplasia syndrome combining hypertrichosis with typical acromegaloid facial features.

Prevalence: <1 / 1 000 000

From birth on, a progressive hypertrichosis congenita terminalis (thick scalp hairs that extend to the forehead and are generalized). In addition, typical facial features manifest themselves in childhood (thick eyebrows, prominent supraorbital grooves, broad bridge of the nose, anteverted scars, long and large philtrum and prominent mouth with full lips).

HAFF seems to belong to a phenotype spectrum with the clinically overlapping syndrome of acromegal facial features (AFA) and hypertrichotic osteochondrodysplasia of the type Cantù.

Mutations in ABCC9 are associated with Cantú syndrome (CS), a very rare genetic disease. Characterized by congenital hypertrichosis, facial acromegaloid aspect, cardiomegaly and skeletal abnormalities.

1. Czeschik JC et al (2013) Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9. At J Med Genet A 161A:295-300.
2. Irvine AD et al (1996) An autosomal dominant syndrome of acromegaloid facial appearance and generalised hypertrichosis terminalis. J Med Genet 33:972-974.
3. Zen PR et al (2004) Acromegaloid facial appearance and hypertrichosis: a case suggesting autosomal recessive inheritance. Clin Dysmorphol 13:49-50.